RGD:28906174 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:28906174 -  Homo sapiens

RGD ID: 28906174
RS ID: rs763532469
ClinVar ID: CV866167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,575,544
GRCh38 10 71,815,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171933.1:c.*509C>T
NM_001171934.1:c.*509C>T
NM_001171935.1:c.*509C>T
NM_001171936.1:c.*509C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Deafness, autosomal recessive 12; USHER SYNDROME, TYPE ID
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH23
Accession:NM_001171936
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171933
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171935
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_022124
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171934
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171932
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171930
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171931
Location:INTRON

Gene Symbol:CDH23
Accession:NM_052836
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106493 CLINVAR
  RCV001106494 CLINVAR
dbSNP (RS) rs763532469 CLINVAR
MedGen C1832394 CLINVAR
  C1832845 CLINVAR
NCBI Gene CDH23 CLINVAR
OMIM 601067 CLINVAR
  601386 CLINVAR
  605516 CLINVAR